Disease ID | Disease name | Source of annotation with EXT1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
133700 | EXOSTOSES, MULTIPLE, TYPE I | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | EXT1 |
215300 | CHONDROSARCOMA | OMIM, HUMSAVAR | link to OMIM | 1 | EXT1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glycosaminoglycan biosynthesis - heparan sulfate / heparin | hsa00534 | 8.12 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
Heparan sulfate/heparin (HS-GAG) metabolism | R-HSA-1638091 | 7.2 |
Defective EXT1 causes exostoses 1, TRPS2 and CHDS | R-HSA-3656253 | 9.28 |
HS-GAG biosynthesis | R-HSA-2022928 | 8.03 |
Metabolism | R-HSA-1430728 | 2.34 |
Diseases of glycosylation | R-HSA-3781865 | 6.89 |
Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
Disease | R-HSA-1643685 | 3.33 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
protein heterodimerization activity | GO:0046982 | 3.64 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | GO:0050508 | 8.64 |
heparan sulfate N-acetylglucosaminyltransferase activity | GO:0042328 | 9.05 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | GO:0050509 | 9.05 |
acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
protein dimerization activity | GO:0046983 | 2.72 |
metal ion binding | GO:0046872 | 1.41 |
UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
glucuronosyltransferase activity | GO:0015020 | 6.27 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |